para>Although pregnancy is rare, sexually active girls and women should receive contraception counseling.
Infertility is the general rule; <2% of pregnancies are achieved without medical assistance:
In vitro fertilization and embryo transfer
Successful ovarian transplants have been reported in teenage girls with TS.
In mosaic TS: ovarian hyperstimulation and oocyte cryopreservation to preserve fertility
High risk of maternal mortality due to cardiac complications, especially aortic dissection; aortic root dimensions must be monitored throughout pregnancy by echo. Pregnancy contraindications: previous aortic coarctation or dissection and aortic size >25 mm/m2 (2)
Increased risk of fetal malformations, chromosome anomalies, cephalopelvic disproportion
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ISSUES FOR REFERRAL
- Genetics
- Congenital heart disease, bicuspid aortic valve, coarctation of the aorta, aortic dissection (especially with valvular abnormalities or coarctation, or systemic HTN); close cardiology follow-up in pregnancy
- Pediatric endocrinologist for GH and estrogen
- Response to GH is variable.
- Orthodontic evaluation
- Psychiatric/educational: may have problems in nonverbal areas such as evaluating objects in relationship to one another. Evaluate school performance. Patients may be at risk for ADHD or impaired social cognition (5).
SURGERY/OTHER PROCEDURES
- Removal of gonads is recommended in patients with X/XY mosaicism due to risk of gonadoblastoma.
- Angioplasty or surgical correction of coarctation of the aorta
- Reconstructive surgery is possible if desired to enhance physical appearance.
ONGOING CARE
FOLLOW-UP RECOMMENDATIONS
Patient Monitoring
- For 2003 health supervision guidelines, see Frias et al. (7)[C].
- Multidisciplinary evaluation and supplementing screening tests as informed by expert opinion guidelines can aid in the interpretation of test results, optimize medical care, and thus, may reduce morbidity and mortality in TS (8)[C].
- Regular cardiac exams; US/MRI at pubertal induction
- Height, weight, BP, pubertal staging (after age 10 years)
- Ambulatory blood pressure monitoring has been shown to improve detection of hypertension, and therefore, treatment of hypertension in this population (9)[C].
- Every 12 to 18 months: thyroid function and insulin-like growth factor 1 (IGF-1), bone age, hearing, and vision assessment
- Every 3 to 5 years: dual energy x-ray absorptiometry scan for bone density
- FSH, liver function tests (LFTs), and pelvic US prior to pubertal induction
- Regular visits to primary care physicians are recommended. Be aware of the social and emotional problems associated with issues such as short stature and infertility.
- Adults with TS should be monitored for cardiovascular disease, including HTN, conduction abnormalities, and valve disease.
- Cardiac imaging (preferably MRI) every 5 to 10 years for aortic root dilatation/aortic dissection; frequent imaging during pregnancy
- Adults also should be monitored for thyroid disease, liver disease, diabetes, obesity, and dyslipidemia (10).
PATIENT EDUCATION
- Provide a thorough explanation of the condition and its management, especially about sexual development and growth. Support groups may be helpful.
- Genetics Home Reference: http://ghr.nlm.nih.gov/condition/turner-syndrome
- Turner Syndrome Society of the United States: (800) 365-9944; http://www.turnersyndrome.org. "Turner Syndrome: A Guide for Families " � (2002) is downloadable from this site.
- Magic Foundation: http://www.magicfoundation.org
- Human Growth Foundation: http://www.hgfound.org
PROGNOSIS
- Most girls lead reasonably normal lives with appropriate medical management; however, mortality was found to be 3-fold higher in women with TS than in the general population. Medical follow-up is important in adulthood; some deaths are preventable.
- Infertility: Most women with TS are infertile; however, pregnancy without medical assistance has been documented. Successful pregnancy following oocyte donation is well described. A thorough cardiovascular evaluation should be performed because the risk of aortic dissection is greatly increased during pregnancy.
- The overall risk of cancer is not increased in TS; however, risk may be increased for meningioma, childhood brain tumors, and possibly bladder cancer, melanoma, and uterine cancer. Risk of breast cancer is decreased in TS.
- 45,X/46,XY mosaicism confers increased risk for gonadoblastoma.
REFERENCES
11 Bondy � �CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92(1):10 " �25.22 Turtle � �EJ, Sule � �AA, Bath � �LE, et al. Assessing and addressing cardiovascular risk in adults with Turner syndrome. Clin Endocrinol. 2013;78(5):639 " �645.33 Collett-Solberg � �PF. Update in growth hormone therapy of children. J Clin Endocrinol Metab. 2011;96(3):573 " �579.44 Davenport � �ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95(4):1487 " �1495.55 Hong � �DS, Dunkin � �B, Reiss � �AL. Psychosocial functioning and social cognitive processing in girls with Turner syndrome. J Dev Behav Pediatr. 2011;32(7):512 " �520.66 Quigley � �CA, Wan � �X, Garg � �S, et al. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab. 2014;99(9):E1754 " �E1764.77 Fr � �as � �JL, Davenport � �ML, Committee on Genetics and Section on Endocrinology. Health supervision for children with Turner syndrome. Pediatrics. 2003;111(3):692 " �702.88 Pinsker � �JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012;97(6):E994 " �E1003.99 Fudge � �EB, Constantacos � �C, Fudge � �JC, et al. Improving detection of hypertension in girls with Turner syndrome using ambulatory blood pressure monitoring. Horm Res Paediatr. 2014;81(1):25 " �31.1010 Trolle � �C, Mortensen � �KH, Hjerrild � �BE, et al. Clinical care of adult Turner syndrome " �new aspects. Pediatr Endocrinol Rev. 2012;9(Suppl 2):739 " �749.
SEE ALSO
Amenorrhea; Coarctation of the Aorta; Hypothyroidism, Adult � �
CODES
ICD10
- Q96.9 Turner 's syndrome, unspecified
- Q96.0 Karyotype 45, X
- Q96.3 Mosaicism, 45, X/46, XX or XY
- Q96.8 Other variants of Turner 's syndrome
- Q96.1 Karyotype 46, X iso (Xq)
- Q96.2 Karyotype 46, X w abnormal sex chromosome, except iso (Xq)
- Q96.4 Mosaic, 45, X/other cell line(s) w abnormal sex chromosome
ICD9
758.6 Gonadal dysgenesis � �
SNOMED
- Turner syndrome (disorder)
- Karyotype 46, X iso (Xq) (disorder)
- Mosaicism 45, X; 46, XX (disorder)
- Mosaicism 45, X or other cell line with abnormal sex chromosome (disorder)
- karyotype 46, X with abnormal sex chromosome except iso (Xq) (disorder)
- Turner 's phenotype, partial X deletion karyotype (disorder)
- Turner 's phenotype - ring chromosome karyotype (disorder)
- Mixed gonadal dysgenesis (disorder)
- Turner 's phenotype, karyotype normal (disorder)
CLINICAL PEARLS
- TS is the most common sex chromosome abnormality syndrome in females.
- Edema of the hands and feet and redundant skin of the neck (webbing) are presenting features during infancy. In school-aged girls, the triad of short stature, social issues, and frequent ear infections should be investigated. During adolescence, primary amenorrhea, short stature, and infantile secondary sex characteristics are presenting features.
- Much of the treatment for TS is not evidence-based, and there is much controversy, especially in hormone replacement therapy, although this is the subject of current investigation.